The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: A viable mouse model for mitochondrial hepatopathy
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Title
The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: A viable mouse model for mitochondrial hepatopathy
Authors
Keywords
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Journal
HEPATOLOGY
Volume 53, Issue 2, Pages 437-447
Publisher
Wiley
Online
2010-12-28
DOI
10.1002/hep.24031
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Related references
Note: Only part of the references are listed.- Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency
- (2010) María Morán et al. HUMAN MUTATION
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- Activation of the Human Contact System on Neutrophil Extracellular Traps
- (2009) Sonja Oehmcke et al. Journal of Innate Immunity
- Functional Analysis of Yeast bcs1 Mutants Highlights the Role of Bcs1p-Specific Amino Acids in the AAA Domain
- (2009) Cécile Nouet et al. JOURNAL OF MOLECULAR BIOLOGY
- Multisystem manifestations of mitochondrial disorders
- (2009) Stefano Di Donato JOURNAL OF NEUROLOGY
- Pathogenic mutations in the 5′ untranslated region of BCS1L mRNA in mitochondrial complex III deficiency
- (2009) M. Carmen Gil-Borlado et al. MITOCHONDRION
- Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient
- (2009) Alberto Blázquez et al. NEUROMUSCULAR DISORDERS
- Mitochondrial Disorders in the Nervous System
- (2008) Salvatore DiMauro et al. Annual Review of Neuroscience
- Assembly of the oxidative phosphorylation system in humans: What we have learned by studying its defects
- (2008) Erika Fernández-Vizarra et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
- Respiratory-chain diseases related to complex III deficiency
- (2008) Paule Bénit et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
- Mice with Mitochondrial Complex I Deficiency Develop a Fatal Encephalomyopathy
- (2008) Shane E. Kruse et al. Cell Metabolism
- Characterization of the mitochondrial protein LETM1, which maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L
- (2008) S. Tamai et al. JOURNAL OF CELL SCIENCE
- Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause
- (2008) Vineta Fellman et al. JOURNAL OF HUMAN GENETICS
- Mouse models of oxidative phosphorylation dysfunction and disease
- (2008) Uma D. Vempati et al. METHODS
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